Canonical Allele Identifier: CA392254554
Gene: GATM HGNC NCBI

Linked Data

gnomAD v4: 15-45362112-G-T
MyVariant Identifiers: chr15:g.45654310G>T (hg19) chr15:g.45362112G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45362112G>T , CM000677.2:g.45362112G>T GRCh38
NC_000015.9:g.45654310G>T , CM000677.1:g.45654310G>T GRCh37
NC_000015.8:g.43441602G>T NCBI36
NG_011674.1:g.21671C>A
NG_011674.2:g.45206C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000396659.8:c.1269C>A MANE Select ENSP00000379895.3:p.Asp423Glu
ENST00000674905.1:c.*231C>A ENSP00000502176.1:n.*231C>A
ENST00000675158.1:c.*169C>A ENSP00000501737.1:n.*169C>A
ENST00000675323.1:c.*1771C>A ENSP00000502445.1:n.*1771C>A
ENST00000675701.1:c.1209C>A ENSP00000502671.1:p.Asp403Glu
ENST00000675974.1:n.3818C>A
ENST00000676090.1:c.*2000C>A ENSP00000501630.1:n.*2000C>A
ENST00000396659.7:c.1269C>A ENSP00000379895.3:p.Asp423Glu
ENST00000558362.5:n.2925C>A
NM_001482.2:c.1269C>A NP_001473.1:p.Asp423Glu
XM_011521450.1:c.1317C>A XP_011519752.1:p.Asp439Glu
XM_011521451.1:c.1311C>A XP_011519753.1:p.Asp437Glu
NM_001321015.1:c.882C>A NP_001307944.1:p.Asp294Glu
NM_001482.3:c.1269C>A MANE Select NP_001473.1:p.Asp423Glu
NM_001321015.2:c.882C>A NP_001307944.1:p.Asp294Glu
Search 100 bp 5'
Search 100 bp 3'